Genetic testing for autism

[Anonymous]

I have not had dd genetic tested, because frankly if you look at people in both me and her dad's family, it's not exactly a shock that someone is autistic. Several others have traits, it's clearly inherited in our case.

If she was the only autistic person in the family, I might have been inclined to do the testing, maybe.

[Anonymous]

Anonymous wrote:We did it for our DS1 with high functioning autism and gained nothing from the tests. Given that I suspect DH has high functioning autism and his father seems to have some sort of undiagnosed personality disorder, I would not be surprised there is a genetic component to DS1’s autism. However, the autism has not affected DH’a social interactions or career abilities. DS1 is more developmentally delayed but we started treatment very early so hopefully he will excel in life even with the delays.

Why do you suspect autism if his social interactions aren't impacted?

[Anonymous]

We are about to get DD tested because she has been diagnosed with hEDS and it's important to rule out the less common forms of EDS. But the geneticist is also looking to see if there are any genes associated with autism. It won't change her (autism-related) interventions. I'm curious, but I wouldn't do it just for the autism.

[Anonymous]

Anonymous wrote:It could be to see if the child has a syndrome and not Autism.

Nooo….
If they have been diagnosed with autism and they find a genetic explanation, the autism is pathogenic. If not, it is idiopathic. Either way, they still have autism

[Anonymous]

Just my experience; our son has mild-moderate autism and mild epilepsy. We had testing and, to the surprise of everyone, it turned out that he DID have a rare genetic syndrome. His language/cognitive abilities were higher than expected for the syndrome and the geneticist was shocked- but it turned out to be very important because it pointed to potential medical concerns.
For his autism, it did help me understand his unique phenotype a bit more.

[Anonymous]

Anonymous wrote:Just my experience; our son has mild-moderate autism and mild epilepsy. We had testing and, to the surprise of everyone, it turned out that he DID have a rare genetic syndrome. His language/cognitive abilities were higher than expected for the syndrome and the geneticist was shocked- but it turned out to be very important because it pointed to potential medical concerns.
For his autism, it did help me understand his unique phenotype a bit more.

Pp, my son has mild autism, adhd and mild epilepsy. He DID has a rare genetic result but it meant nothing to us. I am told the same thing that his language/cognitve abilities were a lot higher than expected for his situation, and he is supposed to have moderate regression in those areas. To opposite, he is high enough to be qualified for enriched/gifted program. They say medicatation is supposed to help him for improvement, but they are not sure for his case. May I ask if they recommendate any medicatation?

[Anonymous]

Some rare genetic conditions have cardiac or other organs affected that you wouldn't know about until the child became extremely ill. Catching these things early can make all the difference.

[Anonymous]

Anonymous wrote:

Anonymous wrote:Just my experience; our son has mild-moderate autism and mild epilepsy. We had testing and, to the surprise of everyone, it turned out that he DID have a rare genetic syndrome. His language/cognitive abilities were higher than expected for the syndrome and the geneticist was shocked- but it turned out to be very important because it pointed to potential medical concerns.
For his autism, it did help me understand his unique phenotype a bit more.

Pp, my son has mild autism, adhd and mild epilepsy. He DID has a rare genetic result but it meant nothing to us. I am told the same thing that his language/cognitve abilities were a lot higher than expected for his situation, and he is supposed to have moderate regression in those areas. To opposite, he is high enough to be qualified for enriched/gifted program. They say medicatation is supposed to help him for improvement, but they are not sure for his case. May I ask if they recommendate any medicatation?

That’s great pp! No, there are no specific meds for my son’s syndrome yet. We remain on epilepsy and adhd meds.

[Anonymous]

I found it helpful. my son has a duplication on the 15th chromosome. I think it's good to know from a medical standpoint. But also I just like having information and I liked learning about it and thinking "ahh that makes sense." I think for me it was part of the acceptance process.

[Anonymous]

This is OP. I wouldn't mind doing it if it was supposed to be helpful for research purposes if it was represented that way. It's just strange that it was presented as beneficial to the family, when it looks like for many people it's not that useful.

[Anonymous]

Anonymous wrote:Some rare genetic conditions have cardiac or other organs affected that you wouldn't know about until the child became extremely ill. Catching these things early can make all the difference.

Is it likely that such rare conditions would be more likely in someone on the spectrum? Sorry if that's an obvious thing, new to this world.

[Anonymous]

Get your whole family tested. It’s free at https://allofus.nih.gov/

[Anonymous]

This is a common recommendation. IME, before any testing is done you’ll need to consult with a geneticist. The geneticist can tell you more about what any tests would look for and whether the tests will be covered by insurance. Scientists are still trying to figure out what the genetic markers are for autism, or subtypes of autism. There is no diagnostic genetic test for autism at this time. We did every test that insurance would pay for. We did find that my child has a variation in one gene that some studies have linked to autism but there doubts about those studies. So more research needs to be done. But I am still glad to have the information, even though it doesn’t change our therapeutic approach.

[Anonymous]

We did it. I am glad we could contribute to research and it was useful. Our child had one deletion. He is high functioning, but has significant language issues, that are subtle for a kid with SN, but glaring in comparison to NT kids. Most kids with his deletion have other deletions and are severely impacted. I could not find anyone else with his deletion alone, but I read up on it and the synapses and all that. It helped us understand that we needed to adjust our expectations with things like reading comprehension, but also help him use his strengths to wire around it.

Also, my husband has the same deletion which I did not see coming. The geneticist kept looking at him with fascination. My husband is an engineer...yes, I know it is more common for people in engineering to have kids on the spectrum. If anything I think it made him all the more empathetic and protective of our son knowing they share the same deletion.

[Anonymous]

Anonymous wrote:Get your whole family tested. It’s free at https://allofus.nih.gov/

Why isnt this suggested pre-conception to understand your risks from you/the other biological parent?